Related gene-specific medical variations for Gene (Select 2038) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689024	NM_001114134.2(EPB42):c.718G>A (p.Ala240Thr)	EPB42 (A240T +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2689023	NM_001114134.2(EPB42):c.1619A>G (p.Glu540Gly)	EPB42 (E540G +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2689022	NM_001114134.2(EPB42):c.1782G>A (p.Met594Ile)	EPB42 (M594I +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2689021	NM_001114134.2(EPB42):c.466A>G (p.Met156Val)	EPB42 (M156V +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2689020	NM_001114134.2(EPB42):c.10+6C>T	EPB42 (P6S)	Single nucleotide variant (missense variant +1 more)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2689019	NM_001114134.2(EPB42):c.946G>A (p.Gly316Arg)	EPB42 (G316R +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2689018	NM_001114134.2(EPB42):c.1852A>T (p.Met618Leu)	EPB42 (M618L +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2441264	NM_001114134.2(EPB42):c.1373G>A (p.Arg458His)	EPB42 (R458H +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2441263	NM_001114134.2(EPB42):c.889G>A (p.Gly297Ser)	EPB42 (G297S +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2441262	NM_001114134.2(EPB42):c.1315G>A (p.Glu439Lys)	EPB42 (E439K +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2441261	NM_001114134.2(EPB42):c.538G>C (p.Asp180His)	EPB42 (D180H +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2441259	NM_001114134.2(EPB42):c.1795G>A (p.Glu599Lys)	EPB42 (E599K +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2441258	NM_001114134.2(EPB42):c.955C>A (p.Gln319Lys)	EPB42 (Q319K +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +1 more	GUncertain significance
Select item 2441257	NM_001114134.2(EPB42):c.902G>A (p.Arg301His)	EPB42 (R301H +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2441256	NM_001114134.2(EPB42):c.260G>A (p.Arg87Gln)	EPB42 (R117Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2441255	NM_001114134.2(EPB42):c.1213G>A (p.Glu405Lys)	EPB42 (E405K +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2441254	NM_001114134.2(EPB42):c.1097T>C (p.Val366Ala)	EPB42 (V366A +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 1330984	NM_001114134.2(EPB42):c.1779+7A>G	EPB42	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 5	GLikely benign
Select item 1330970	NM_001114134.2(EPB42):c.890G>T (p.Gly297Val)	EPB42 (G297V +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 1330747	NM_001114134.2(EPB42):c.550-37_550-12dup	EPB42	Duplication (intron variant)	Hereditary spherocytosis type 5	GLikely benign
Select item 1330591	NM_001114134.2(EPB42):c.637C>T (p.Arg213Cys)	EPB42 (R213C +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 1324335	NM_001114134.2(EPB42):c.1501del (p.Ser501fs)	EPB42 (S501fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 5	GLikely pathogenic
Select item 993695	NC_000015.10:g.43221127A>T	EPB42	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 439665	NM_001114134.2(EPB42):c.1919G>A (p.Arg640His)	EPB42 (R670H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 255151	NM_001114134.2(EPB42):c.186T>G (p.Thr62=)	EPB42	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 255150	NM_001114134.2(EPB42):c.1319-13T>G	EPB42	Single nucleotide variant (intron variant)	not specified	GLikely benign

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Links from Gene

Items: 26